Canonical Allele Identifier: CA368975464

Gene: CFTR

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642566G>T , CM000669.2:g.117642566G>T	GRCh38
NC_000007.13:g.117282620G>T , CM000669.1:g.117282620G>T	GRCh37
NC_000007.12:g.117069856G>T	NCBI36
NG_016465.4:g.181783G>T , LRG_663:g.181783G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*55G>T	ENSP00000497673.2:n.*55G>T
ENST00000647978.2:c.*3560G>T	ENSP00000497658.1:n.*3560G>T
ENST00000649781.2:c.3663G>T	ENSP00000497203.1:p.Trp1221Cys
ENST00000685018.2:c.3846G>T	ENSP00000510194.2:p.Trp1282Cys
ENST00000687278.2:c.*499G>T	ENSP00000509593.2:n.*499G>T
ENST00000699585.1:c.*55G>T	ENSP00000514456.1:n.*55G>T
ENST00000699598.1:c.3846G>T	ENSP00000514467.1:p.Trp1282Cys
ENST00000699599.1:c.3846G>T	ENSP00000514468.1:p.Trp1282Cys
ENST00000699600.1:c.*507G>T	ENSP00000514469.1:n.*507G>T
ENST00000699601.1:c.*2221G>T	ENSP00000514470.1:n.*2221G>T
ENST00000699602.1:c.3840G>T	ENSP00000514471.1:p.Trp1280Cys
ENST00000699604.1:c.*3670G>T	ENSP00000514472.1:n.*3670G>T
ENST00000699605.1:c.3420G>T	ENSP00000514473.1:p.Trp1140Cys
ENST00000685018.1:c.594G>T	ENSP00000510194.1:p.Trp198Cys
ENST00000687278.1:c.1633G>T	ENSP00000509593.1:n.1633G>T
ENST00000689011.1:c.428G>T
ENST00000003084.11:c.3846G>T MANE Select	ENSP00000003084.6:p.Trp1282Cys
ENST00000647720.1:c.1296G>T
ENST00000649781.1:c.3663G>T	ENSP00000497203.1:p.Trp1221Cys
ENST00000003084.10:c.3846G>T	ENSP00000003084.6:p.Trp1282Cys
ENST00000426809.5:c.3756G>T	ENSP00000389119.1:p.Trp1252Cys
NM_000492.3:c.3846G>T , LRG_663t1:c.3846G>T	NP_000483.3:p.Trp1282Cys
XM_011515751.1:c.3936G>T	XP_011514053.1:p.Trp1312Cys
XM_011515752.1:c.3936G>T	XP_011514054.1:p.Trp1312Cys
XM_011515753.1:c.3603G>T	XP_011514055.1:p.Trp1201Cys
XM_011515754.1:c.3603G>T	XP_011514056.1:p.Trp1201Cys
NM_000492.4:c.3846G>T MANE Select	NP_000483.3:p.Trp1282Cys